Oocyte maturation defect 5

disease

On this page

Also known as OOMD5

Summary

Oocyte maturation defect 5 (MONDO:0020837) is a disease caused by WEE2 (GenCC Definitive), with 1 cohort gene.

At a glance

Causal gene: WEE2 (GenCC Definitive)
Cohort genes: 1
ClinVar variants: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	oocyte maturation defect 5
Mondo ID	MONDO:0020837
OMIM	617996
UMLS	C4693865
MedGen	1644330
Is cancer (heuristic)	no

Also known as: oocyte maturation defect 5 · OOMD5

Data availability: 8 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inherited oocyte maturation defect › oocyte maturation defect 5

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

8 retrieved; paginated sample, class counts are floors:

6 pathogenic, 1 uncertain significance, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
4796631	NM_001105558.1(WEE2):c.1007_1008dup (p.His337fs)	WEE2	Pathogenic	criteria provided, single submitter
545469	NM_001105558.1(WEE2):c.700G>C (p.Asp234His)	WEE2	Pathogenic	no assertion criteria provided
545470	NM_001105558.1(WEE2):c.1477dup (p.Thr493fs)	WEE2	Pathogenic	no assertion criteria provided
977295	NM_001105558.1(WEE2):c.1228C>T (p.Arg410Trp)	WEE2	Pathogenic	no assertion criteria provided
977296	NM_001105558.1(WEE2):c.1221G>A (p.Glu407=)	WEE2	Pathogenic	no assertion criteria provided
977297	NM_001105558.1(WEE2):c.598C>T (p.Arg200Ter)	WEE2	Pathogenic	no assertion criteria provided
545471	NM_001105558.1(WEE2):c.224_227del (p.Glu75fs)	WEE2	Likely pathogenic	criteria provided, single submitter
3065531	NM_001105558.1(WEE2):c.487T>C (p.Tyr163His)	WEE2	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
WEE2	Definitive	Autosomal recessive	oocyte maturation defect 5	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
WEE2	Orphanet:488191	Female infertility due to oocyte meiotic arrest

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
WEE2	HGNC:19684	ENSG00000214102	P0C1S8	Wee1-like protein kinase 2	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
WEE2	Wee1-like protein kinase 2	Oocyte-specific protein tyrosine kinase that phosphorylates and inhibits CDK1/CDC2 and acts as a key regulator of meiosis during both prophase I and metaphase II.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
WEE2	Kinase	yes		Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf

Expression context

Cohort genes with no expression data: 0.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
ganglionic eminence	1
male germ line stem cell (sensu Vertebrata) in testis	1
primordial germ cell in gonad	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
WEE2	111		yes	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, ganglionic eminence

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
WEE2	1,406

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
WEE2	P0C1S8	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
female pronucleus assembly	1	16852.0×	4e-04	WEE2
regulation of meiosis I	1	8426.0×	4e-04	WEE2
negative regulation of oocyte maturation	1	3370.4×	6e-04	WEE2
regulation of fertilization	1	2808.7×	6e-04	WEE2
female meiotic nuclear division	1	1685.2×	8e-04	WEE2
positive regulation of phosphorylation	1	842.6×	0.001	WEE2
mitotic cell cycle	1	133.8×	0.007	WEE2

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
WEE2	FEDRATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
WEE2	13	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FEDRATINIB	4	WEE2
NERATINIB	4	WEE2
BOSUTINIB	4	WEE2
DASATINIB	4	WEE2
LESTAURTINIB	3	WEE2
ADAVOSERTIB	2	WEE2
R-406	2	WEE2
MILCICLIB	2	WEE2
TOZASERTIB	2	WEE2
PELITINIB	2	WEE2
KW-2449	1	WEE2
PF-03814735	1	WEE2
PD-0166285	1	WEE2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
WEE2	92	Binding:92

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

13 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
FEDRATINIB	4	WEE2
NERATINIB	4	WEE2
BOSUTINIB	4	WEE2
DASATINIB	4	WEE2
LESTAURTINIB	3	WEE2
ADAVOSERTIB	2	WEE2
R-406	2	WEE2
MILCICLIB	2	WEE2
TOZASERTIB	2	WEE2
PELITINIB	2	WEE2
KW-2449	1	WEE2
PF-03814735	1	WEE2
PD-0166285	1	WEE2

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	WEE2
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: WEE2